Wu Hsi-Yang, Rusnack Susan L, Bellah Richard D, Plachter Natalie, McDonald-McGinn Donna M, Zackai Elaine H, Canning Douglas A
Division of Pediatric Urology, Children's Hospital of Philadelphia, Pennsylvania, USA.
J Urol. 2002 Dec;168(6):2564-5. doi: 10.1016/S0022-5347(05)64215-2.
We reviewed our experience with genitourinary malformations associated with chromosome 22q11.2 deletion.
We retrospectively reviewed patient intake charts at the 22q clinic at our institution. We assessed 73 renal/bladder ultrasounds and 7 autopsies performed between 1998 and 2000 for renal and bladder malformations. A total of 149 male patients were evaluated for possible testicular and urethral malformations.
Of 80 patients 25 (31%) had a structural urinary tract anomaly. Another 8 patients had renal agenesis or multicystic dysplastic kidney, 4 had hydronephrosis and 5 had vesicoureteral reflux or an irregular bladder, while 8 of 73 (11%) had dysfunctional voiding, 9 of 149 (6%) had undescended testes and 12 of 149 (8%) had hypospadias.
Screening renal/bladder ultrasound, careful voiding history and medical but not surgical therapy are recommended for renal and bladder anomalies associated with 22q11.2 deletion. The need for surgery for cryptorchidism and hypospadias is slightly higher than in the general population.
我们回顾了与22q11.2缺失相关的泌尿生殖系统畸形的经验。
我们回顾性地查阅了本机构22q门诊的患者入院病历。我们评估了1998年至2000年间进行的73次肾脏/膀胱超声检查以及7例针对肾脏和膀胱畸形的尸检。总共对149例男性患者进行了可能存在的睾丸和尿道畸形评估。
80例患者中，25例（31%）存在结构性尿路异常。另有8例患者出现肾缺如或多囊性发育不良肾，4例有肾积水，5例有膀胱输尿管反流或膀胱形态不规则，而73例中有8例（11%）存在排尿功能障碍，149例中有9例（6%）有隐睾，149例中有12例（8%）有尿道下裂。
对于与22q11.2缺失相关的肾脏和膀胱异常，建议进行肾脏/膀胱超声筛查、仔细询问排尿史并采取药物而非手术治疗。隐睾症和尿道下裂的手术需求略高于一般人群。
